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GENATLAS PHENOTYPE
last update : 20-12-2018
Symbol LQT5
Location 21q22.1
Name long QT syndrome with ventricular tachyarrhythmia, type 5
Corresponding gene KCNE1
Main clinical features
  • characterized by a prolongation of the QT interval on an electrocardiogram, predisposing to torsades de pointes and ventricular fibrillation
  • associated to diminishing potassium currents (see genes KCNE2, KCNQ1)
    • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Gene product
    Name potassium voltage-gated channel KCNE1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)